Varaico: Literature-Extracted Genetic Variants

Gene:CS
Variant:p.V20V

CS

1,005 papers

RefSeq Summary

The protein encoded by this gene is a Krebs tricarboxylic acid cycle enzyme that catalyzes the synthesis of citrate from oxaloacetate and acetyl coenzyme A. The enzyme is found in nearly all cells cap...

Pfam Domains

Citrate_syntaa 71–450UCSCCitrate synthase, C-terminal domain

Gene Aliases

HGNC Name

citrate synthase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004077.3
p.V20V
c.60T>A
Surrounding Variants
1 paper
NM_004077.3
p.A22T
c.64G>A
1 paper
NM_004077.3
p.C18S
c.52T>A
1 paper
NM_004077.3
p.A23_R24insFs
c.69_70ins4
1 paper
NM_004077.3
p.R24G
c.70C>G
1 paper
NM_004077.3
p.S17Y
c.50C>A
1 paper
NM_004077.3
p.A16_S17insFs
c.48_49insA
1 paper
NM_004077.3
p.S17T
c.49T>A
2 papers
NM_004077.3
p.A16V
c.47C>T
1 paper
NM_004077.3
p.A16G
c.47C>G
1 paper
NM_004077.3
p.R24delFs
c.72delC
1 paper
NM_004077.3
p.H25Q
c.75T>A
1 paper
NM_004077.3
p.N15I
c.44A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."